Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria

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Bibliographic Details
Published in:Journal of inherited metabolic disease 1999-05, Vol.22 (3), p.208-212
Main Authors: Waters, P. J., Parniak, M. A., Akerman, B. R., Jones, A. O., Scriver, C. R.
Format: Article
Language:English
Subjects:
Aminoacid disorders
Biological and medical sciences
Errors of metabolism
Humans
Medical sciences
Metabolic diseases
Mutation, Missense
Phenylalanine Hydroxylase - genetics
Phenylalanine Hydroxylase - metabolism
Phenylketonurias - enzymology
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ISSN:0141-8955
1573-2665
DOI:10.1023/A:1005533825980